Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
Por:
Limeres J, Serrano C, De Nova JM, Silvestre-Rangil J, Machuca G, Maura I, Cruz Ruiz-Villandiego J, Diz P, Blanco-Lago R, Nevado J and Diniz-Freitas M
Publicada:
1 nov 2020
Ahead of Print:
4 nov 2020
Categoría:
Medicine (miscellaneous)
Resumen:
Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018-2019. The study group consisted of 31 patients with WHS who underwent a standardized oral examination. Due to behavioral reasons, imaging studies were performed on only 11 of the children 6 years of age or older. All participants had previously undergone a specific medical examination for WHS, during which anatomical, functional, epilepsy-related, and genetic variables were recorded. Results: The most prevalent oral manifestations were delayed tooth eruption (74.1%), bruxism (64.5%), dental agenesis (63.6%), micrognathia (60.0%), oligodontia (45.5%), and downturned corners of the mouth (32.3%). We detected strong correlation between psychomotor delay and oligodontia (p = 0.008; Cramer's V coefficient, 0.75). The size of the deletion was correlated in a statistically significant manner with the presence of oligodontia (p = 0.009; point-biserial correlation coefficient, 0.75). Conclusion: Certain oral manifestations prevalent in WHS can form part of the syndrome's phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome.
Filiaciones:
Limeres J:
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain
Serrano C:
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain
De Nova JM:
Department of Stomatology IV, School of Dentistry, University Complutense de Madrid, 28040 Madrid, Spain
:
Department of Stomatology, University Hospital Doctor Peset-FISABIO, 46017 Valencia, Spain
Machuca G:
Department of Special Care in Dentistry, School of Dentistry, University of Seville, 41009 Sevilla, Spain
Maura I:
Service of Pediatric Dentistry, Barcelona University Children's Hospital HM Nens, 08009 Barcelona, Spain
Cruz Ruiz-Villandiego J:
Service of Special Care in Dentistry, Quirón Hospital, 200012 San Sebastián, Spain
Diz P:
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain
Blanco-Lago R:
Service of Neuropediatrics, University Hospital Central de Asturias, 33011 Oviedo, Spain
Nevado J:
Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain
Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain
ERN (European Reference Network)-ITHACA, La Paz University Hospital, 28046 Madrid, Spain
Diniz-Freitas M:
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain
gold, Green Published
|